ELOVL1

ELOVL fatty acid elongase 1 Q9BW60 ELOV1_HUMAN
Protein Coding Chr 1 1p34.2 Swiss-Prot reviewed Entrez 64834
Mutations
346
CL 40 · Tissue 295
Samples
124
CL 20 · Tissue 101
Peptides
104
unique mutant peptides
Transcripts
3
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations34640295
Samples12420101
Peptides1041486

Function

ELOVL1 · ELOVL fatty acid elongase 1

Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

3 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000372458 Q9BW60 128 94
ENST00000621943 Q9BW60 115 91
ENST00000413844 Q9BW60-2 103 83

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p34.2
Entrez ID
Aliases
CGI-88IKSHDSsc1

Recurrent Mutations

All 94 amino-acid changes on canonical ENST00000372458 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in ELOVL1 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ELOVL1 – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
Retinoblastoma
1/27 4%
0/30 0%
Endometrial Carcinoma
1/42 2%
6/612 1%
Colorectal Carcinoma
7/143 5%
19/3239 1%
Melanoma
0/210 0%
11/1899 1%
Other Solid Cancers
0/94 0%
8/1515 1%
Gastric Carcinoma
0/74 0%
9/1809 0%
Squamous Cell Lung Carcinoma
2/57 4%
2/810 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Thyroid Gland Carcinoma
2/45 4%
4/1592 0%
Non-Small Cell Lung Carcinoma
3/304 1%
3/1390 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Ovarian Carcinoma
0/109 0%
3/998 0%
Prostate Carcinoma
2/13 15%
3/2105 0%
Biliary Tract Carcinoma
1/54 2%
1/950 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Glioma
0/52 0%
4/2127 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
4/2534 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Other Sarcomas
0/69 0%
1/699 0%
Breast Carcinoma
0/144 0%
4/3264 0%
Non-Cancerous
0/104 0%
1/830 0%
Hepatocellular Carcinoma
0/46 0%
2/2210 0%
Neuroblastoma
0/87 0%
1/1331 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%

Mutation Distribution

Where ELOVL1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ELOVL1 were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 346 mutations in ELOVL1

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide